V39E (p.Val39Glu) variant of TERT (Telomerase reverse transcriptase)
V39E (p.Val39Glu) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V39E (p.Val39Glu) variant details
- p.Val39Glu
- Ensembl rs2126691998
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.77
- MetaLR 0.84
- MetaSVM 0.80
- CADD 24.80
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available